DiGeorge syndrome is a disease that occurs due to genetic disorders. This disease occurs when there is a loss of certain genetic components on chromosomes, precisely on chromosome 22. Because of these genetic problems, children born with this condition can experience various health problems.
Most people with DiGeorge syndrome do not have a family with a history of the disease. However, parents who suffer from DiGeorge syndrome can reduce the same disease in their children. This disease can occur when there are problems in the formation of the genetic component of the fetus during fertilization.
A small proportion of children born with this condition do not experience serious health problems. However, most children who suffer from DiGeorge syndrome have various health problems, such as:
- Congenital heart defect.
- Harelip.
- Lack of calcium in the blood.
- Hormonal disorders.
- Growth disorders.
- Bone disorders.
Symptoms of DiGeorge Syndrome
DiGeorge syndrome can cause symptoms that vary, depending on the severity and which organ systems are affected by genetic disorders. Usually the symptoms of this syndrome have been seen since the baby was born. However, there are also patients who only show symptoms when they are under the age of toddlers or children.
The following are some of the symptoms and signs of DiGeorge syndrome:
- Abnormalities in the shape of the face, such as a long face, long and wide nose, many folds on the eyelids, short and small ears, chin and mouth are small and short, and the face looks asymmetrical.
- Problems with the lips and mouth, such as cleft lip, cleft palate, and small teeth. This condition makes it difficult for children to eat.
- The existence of noisy heart and bluish skin. This condition is caused by lack of oxygen-rich blood circulation due to congenital heart defects.
- Weak muscles.
- Frequent seizures.
- Respiratory disorders, for example, breathing is often short and heavy.
- Mental and behavioral disorders.
- Child's immune system is weak.
- Spinal deformities, such as scoliosis.
- Growth and development disorders, such as being late to sit, late talking, and learning difficulties.
Causes of DiGeorge Syndrome
Normally, a person gets 23 chromosomes from the father and 23 chromosomes from the mother with a total of 46 chromosomes. In patients with DiGeorge syndrome, genetic disorders occur where a small component of chromosome 22 is lost, precisely at a location called q11.2. That is why, this condition is also called 22q11.2 deletion syndrome.
The loss of this part of the chromosome can occur in father's cell sprema, mother's egg, or when the fetus develops. This genetic disorder affects almost all body organ systems with varying severity. Some sufferers can grow into adulthood, but some are experiencing severe health problems resulting in death.
To diagnose DiGeorge syndrome with certainty, it takes a complete medical examination from a doctor. This examination includes physical examination and support, such as X-rays, blood tests, and genetic tests.
Treatment of DiGeorge Syndrome
So far, no treatment can cure DiGeorge syndrome. Children and adults who experience them need to undergo regular health care and monitoring to prevent complications that may arise later in life.
A child suffering from SiGeorge syndrome needs to receive or undergo periodic medical examinations which include a thorough physical examination, evaluation of growth and development, examination of nutritional status, and support, such as blood tests.
To prevent further complications or treat problems that have already been experienced, sufferers of DiGeorge syndrome can be given several treatments, such as:
- Providing calcium and vitamin D supplements to treat calcium deficiency.
- Speech therapy if the patient is experiencing speech impediments or difficulties.
- Physiotherapy to overcome the problem of body movement.
- Psychotherapy if there are psychological problems or mental disorders. Treatment to deal with immune system disorders.
- Surgery to treat disorders of certain organs or body parts, such as birth defects in the heart and cleft lip.
DiGeorge syndrome can not be treated. But with good support from the family, as well as routine therapy and examination to the doctor, sufferers of DiGeorge Syndrome can live normally, independently, and avoid complications.
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